MALT1-dependent cleavage of HOIL1 modulates canonical NF-kB signaling and inflammatory responsiveness

From patient-derived HOIL1-deficient skin fibroblasts transduced with WT and p.Arg165Lys (R/K) HOIL1, we performed differential expression analysis, gene set enrichment, and pathway analyses by RNA-Seq to demonstrate exaggerated activation of inflammatory pathways. Overall design: Transcriptome profiling of untransduced and WT or p.Arg165Lys (R/K) HOIL1-transduced HOIL1-deficient patient skin fibroblasts in technical triplicate, with or without stimulation (4hrs 10ng/mL IL-1b)

我们以患者来源的HOIL1缺陷皮肤成纤维细胞为实验材料，将其分别转导野生型（Wild Type, WT）与p.精氨酸165赖氨酸（p.Arg165Lys, R/K）HOIL1后，通过RNA测序（RNA-Seq）开展差异表达分析、基因集富集分析与通路分析，以验证炎症通路存在过度激活现象。整体实验设计：对未转导、转导野生型（WT）或转导p.精氨酸165赖氨酸（R/K）HOIL1的HOIL1缺陷患者皮肤成纤维细胞进行转录组分析，每组设置技术重复三次；同时设置是否经10ng/mL白细胞介素1β（IL-1β）刺激4小时的分组。